Variant report

Variant	rs6048331
Chromosome Location	chr20:22736437-22736438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11087395	0.85[EUR][1000 genomes]
rs11907108	0.84[EUR][1000 genomes]
rs12479587	0.86[EUR][1000 genomes]
rs13036614	0.87[EUR][1000 genomes]
rs13036740	0.87[EUR][1000 genomes]
rs13037649	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13037911	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs13037976	0.87[EUR][1000 genomes]
rs13038520	0.81[CEU][hapmap]
rs13039411	0.82[CEU][hapmap]
rs13039474	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs13040538	0.83[EUR][1000 genomes]
rs13044931	0.81[EUR][1000 genomes]
rs4371419	0.84[EUR][1000 genomes]
rs4514951	0.84[EUR][1000 genomes]
rs4603850	0.84[EUR][1000 genomes]
rs6036197	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs6036200	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6036203	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6036204	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6036205	0.87[EUR][1000 genomes]
rs6036206	0.87[EUR][1000 genomes]
rs6036212	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6036213	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048280	0.84[AMR][1000 genomes]
rs6048283	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6048284	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6048291	0.84[EUR][1000 genomes]
rs6048298	0.84[EUR][1000 genomes]
rs6048300	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs6048326	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6048327	0.87[EUR][1000 genomes]
rs6048328	0.83[EUR][1000 genomes]
rs6048332	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048333	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6075943	0.87[EUR][1000 genomes]
rs6113789	0.84[EUR][1000 genomes]
rs7262725	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs7270196	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs7270365	0.84[EUR][1000 genomes]
rs7270374	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs965762	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs965763	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061382	chr20:22706041-22763200	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv544213	chr20:22722740-22791150	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv528221	chr20:22732749-22767280	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22726000-22739000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:22732800-22738000	Weak transcription	Placenta	Placenta
3	chr20:22733800-22737600	Weak transcription	HSMMtube	muscle
4	chr20:22734600-22738600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr20:22734800-22745200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr20:22735400-22736600	Enhancers	Esophagus	oesophagus
7	chr20:22736000-22736600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:22736000-22736600	Enhancers	NHEK	skin
9	chr20:22736200-22736600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr20:22736200-22737800	Weak transcription	Aorta	Aorta

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